Infantile hypertrophic pyloric stenosis (IHPS) is a severe condition characterized by hypertrophy of the pyloric sphincter muscle. We conducted a genome-wide association study (GWAS) on 1,001 surgery-confirmed cases and 2,401 controls from Denmark. The six most strongly associated loci were tested in a replication set of 796 cases and 876 controls. Three SNPs reached genome-wide significance. One of these SNPs, rs11712066 (odds ratio (OR) = 1.61; P = 1.5 × 10(-17)) at 3p25.1, is located 150 kb upstream of MBNL1, which encodes a factor that regulates splicing transitions occurring shortly after birth. The second SNP, rs573872 (OR = 1.41; P = 4.3 × 10(-12)), maps to an intergenic region at 3p25.2 approximately 1.3 Mb downstream of MBNL1. The third SNP, rs29784 (OR = 1.42; P = 1.5 × 10(-15)) at 5q35.2, is 64 kb downstream of NKX2-5, which is involved in development of cardiac muscle tissue and embryonic gut development.
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View Article and Find Full Text PDFLong-term Gastrointestinal Sequelae in Children who Underwent Pyloromyotomy for Infantile Hypertrophic Pyloric Stenosis.
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Article Synopsis
- The study aimed to assess the long-term gastrointestinal effects of pyloromyotomy in children who had undergone this surgery for infantile hypertrophic pyloric stenosis (IHPS) from 2007 to 2017.
- A questionnaire, including the Pediatric Quality of Life Inventory™ Gastrointestinal symptoms module, was completed by 199 participants, revealing that their GI symptoms scores were similar to those of healthy peers.
- The results suggest that long-term GI issues after pyloromyotomy are rare, indicating no significant difference in health outcomes between these children and healthy controls, which can help inform parents and lessen the need for extensive follow-up care.
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